A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667754



Internal ID9587173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12775402..12781408hg38UCSC Ensembl
Outerchr19:12775031..12781778hg38UCSC Ensembl
Innerchr19:12886216..12892222hg19UCSC Ensembl
Outerchr19:12885845..12892592hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg386748
hg196748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5687854, essv6121481, essv6397619, essv6390815, essv5711078, essv6532025, essv5767640, essv5442180, essv5657394, essv5502887, essv5424311, essv6364114, essv5720863, essv6124632, essv6143901, essv5719872, essv5996866, essv6272210, essv5504810, essv5968229, essv5408517, essv5611143, essv6196502, essv5494249, essv5917767, essv6157507, essv5921431, essv5849562, essv6533370, essv5725125, essv6029834, essv6482642, essv6115798, essv5956741, essv6319916, essv6477610, essv5823808
SamplesHG01060, HG01173, HG01052, HG01079, HG01188, HG01066, HG00737, HG01051, HG00641, HG01070, HG01168, HG00736, HG01083, HG01069, HG01170, HG01072, HG01176, HG01198, HG01183, HG01187, HG01171, HG01095, HG01102, HG01073, HG01197, HG01182, HG01101, HG01107, HG01204, HG01075, HG01190, HG00734, HG01174, HG01108, HG01082, HG01191, HG01061
Known GenesHOOK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667754
Frequency
Sample Size1151
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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